Incidental Mutation 'R4260:Luc7l3'
| ID |
322624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Luc7l3
|
| Ensembl Gene |
ENSMUSG00000020863 |
| Gene Name |
LUC7-like 3 (S. cerevisiae) |
| Synonyms |
3300001P08Rik |
| MMRRC Submission |
041073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R4260 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94181899-94213196 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 94186876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021226]
[ENSMUST00000107820]
[ENSMUST00000107821]
[ENSMUST00000107822]
[ENSMUST00000166312]
|
| AlphaFold |
Q5SUF2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021226
AA Change: H336Q
|
| SMART Domains |
Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: H336Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
3 |
293 |
2.3e-89 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107820
AA Change: H336Q
|
| SMART Domains |
Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: H336Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
1 |
302 |
4.2e-72 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107821
AA Change: H336Q
|
| SMART Domains |
Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: H336Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
1 |
302 |
4.2e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107822
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132623
AA Change: H71Q
|
| SMART Domains |
Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863
AA Change: H71Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
31 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138369
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166312
AA Change: H336Q
|
| SMART Domains |
Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: H336Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
1 |
300 |
7.9e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171033
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
G |
A |
18: 80,180,742 (GRCm39) |
S52L |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,860,131 (GRCm39) |
M464L |
probably benign |
Het |
| Ccdc83 |
T |
G |
7: 89,877,599 (GRCm39) |
D281A |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,445,741 (GRCm39) |
P502S |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,543,745 (GRCm39) |
S96R |
possibly damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cntnap5a |
G |
T |
1: 116,374,325 (GRCm39) |
A946S |
probably benign |
Het |
| Csnk2a2 |
A |
T |
8: 96,184,027 (GRCm39) |
D177E |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,468,019 (GRCm39) |
S551P |
probably damaging |
Het |
| Degs1 |
A |
T |
1: 182,106,806 (GRCm39) |
I151N |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Eif2ak3 |
G |
A |
6: 70,866,497 (GRCm39) |
R597H |
probably damaging |
Het |
| Epg5 |
A |
T |
18: 78,002,336 (GRCm39) |
H585L |
possibly damaging |
Het |
| Epg5 |
G |
C |
18: 78,058,914 (GRCm39) |
W1889C |
probably damaging |
Het |
| Fam220a |
G |
C |
5: 143,548,762 (GRCm39) |
R58P |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,059,185 (GRCm39) |
A32V |
probably damaging |
Het |
| Gm11189 |
A |
C |
11: 53,091,703 (GRCm39) |
|
noncoding transcript |
Het |
| Grb2 |
A |
G |
11: 115,540,642 (GRCm39) |
I85T |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
| Kel |
A |
T |
6: 41,663,357 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,689,597 (GRCm39) |
T527K |
probably damaging |
Het |
| Klra10 |
A |
G |
6: 130,249,644 (GRCm39) |
W214R |
probably damaging |
Het |
| Mrpl4 |
A |
G |
9: 20,918,988 (GRCm39) |
E211G |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,850 (GRCm39) |
|
noncoding transcript |
Het |
| Or52n5 |
A |
C |
7: 104,587,803 (GRCm39) |
E23D |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,860,186 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,627 (GRCm39) |
|
probably null |
Het |
| Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,733,234 (GRCm39) |
M802T |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,280 (GRCm39) |
F909S |
possibly damaging |
Het |
| Raph1 |
A |
T |
1: 60,542,124 (GRCm39) |
M330K |
possibly damaging |
Het |
| Rprd1a |
G |
A |
18: 24,621,352 (GRCm39) |
R276C |
possibly damaging |
Het |
| Scg3 |
A |
G |
9: 75,558,979 (GRCm39) |
Y406H |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,234,808 (GRCm39) |
S965F |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Spata17 |
T |
A |
1: 186,780,677 (GRCm39) |
T357S |
possibly damaging |
Het |
| Tmt1a |
A |
G |
15: 100,210,951 (GRCm39) |
D141G |
probably benign |
Het |
| Zap70 |
T |
A |
1: 36,818,189 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
G |
A |
4: 147,668,029 (GRCm39) |
C299Y |
probably damaging |
Het |
|
| Other mutations in Luc7l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Luc7l3
|
APN |
11 |
94,194,768 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02138:Luc7l3
|
APN |
11 |
94,194,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02318:Luc7l3
|
APN |
11 |
94,183,819 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02479:Luc7l3
|
APN |
11 |
94,187,735 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02563:Luc7l3
|
APN |
11 |
94,190,894 (GRCm39) |
splice site |
probably null |
|
|
veritas
|
UTSW |
11 |
94,183,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0096:Luc7l3
|
UTSW |
11 |
94,192,320 (GRCm39) |
splice site |
probably benign |
|
|
R0096:Luc7l3
|
UTSW |
11 |
94,192,320 (GRCm39) |
splice site |
probably benign |
|
|
R1706:Luc7l3
|
UTSW |
11 |
94,188,582 (GRCm39) |
splice site |
probably benign |
|
|
R3803:Luc7l3
|
UTSW |
11 |
94,183,992 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4647:Luc7l3
|
UTSW |
11 |
94,200,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Luc7l3
|
UTSW |
11 |
94,186,806 (GRCm39) |
unclassified |
probably benign |
|
|
R5179:Luc7l3
|
UTSW |
11 |
94,190,879 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5591:Luc7l3
|
UTSW |
11 |
94,184,060 (GRCm39) |
unclassified |
probably benign |
|
|
R6767:Luc7l3
|
UTSW |
11 |
94,183,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6912:Luc7l3
|
UTSW |
11 |
94,200,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7168:Luc7l3
|
UTSW |
11 |
94,190,810 (GRCm39) |
missense |
unknown |
|
|
R7541:Luc7l3
|
UTSW |
11 |
94,186,791 (GRCm39) |
missense |
unknown |
|
|
R9029:Luc7l3
|
UTSW |
11 |
94,188,676 (GRCm39) |
missense |
unknown |
|
|
R9154:Luc7l3
|
UTSW |
11 |
94,190,793 (GRCm39) |
missense |
unknown |
|
|
R9236:Luc7l3
|
UTSW |
11 |
94,186,772 (GRCm39) |
missense |
unknown |
|
|
R9620:Luc7l3
|
UTSW |
11 |
94,212,545 (GRCm39) |
missense |
unknown |
|
|
R9663:Luc7l3
|
UTSW |
11 |
94,187,756 (GRCm39) |
missense |
unknown |
|
|
Z1177:Luc7l3
|
UTSW |
11 |
94,212,601 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGAGCACAGCAAGTAG -3'
(R):5'- AGCTTCAATCTTAAGGGAAGCCC -3'
Sequencing Primer
(F):5'- CAAGTAGGGGTACGGGTTGC -3'
(R):5'- TTGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation